| Metadata | |
|---|---|
| ID | DOID:0081398 |
| Name | holoprosencephaly 12 |
| Definition | A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. https://pubmed.ncbi.nlm.nih.gov/31006510/ |
| Xrefs | |
| Synonyms |
holoprosencephaly-12 with or without pancreatic agenesis [EXACT] |
| Parent Relationships |
is_a holoprosencephaly |